Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province.

Autor:	Liang HF; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Cao YB; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Lin F; Precision Medical Lab Center, Chaozhou Central Hospital, Chaozhou, Guangdong, China., Yang YK; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China.; Institute of Medicine and Nursing, Hubei University of Medicine, Shiyan, Hubei, China., Liao YW; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Ou WH; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Chen JL; Department of Laboratory Medicine, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Zeng YQ; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Huang YC; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Zeng GK; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Chen ZX; Department of Transfusion, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Situ JW; Department of Laboratory Medicine, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Yao JX; Department of Laboratory Medicine, People's Hospital of Yangjiang, Yangjiang, Guangdong, China., Yang LY; Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, Guangdong, China.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2024 Jan 09; Vol. 14, pp. 1345537. Date of Electronic Publication: 2024 Jan 09 (Print Publication: 2023).
DOI:	10.3389/fgene.2023.1345537
Abstrakt:	Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region. Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants. Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population. Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Liang, Cao, Lin, Yang, Liao, Ou, Chen, Zeng, Huang, Zeng, Chen, Situ, Yao and Yang.)
Databáze:	MEDLINE
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